Canonical Allele Identifier: CA2615862140
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Linked Data

gnomAD v4: 11-108347183-A-AGTGG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108347183_108347184insGTGG , CM000673.2:g.108347183_108347184insGTGG GRCh38
NC_000011.9:g.108217910_108217911insGTGG , CM000673.1:g.108217910_108217911insGTGG GRCh37
NC_000011.8:g.107723120_107723121insGTGG NCBI36
NG_009830.1:g.129352_129353insGTGG , LRG_135:g.129352_129353insGTGG
NG_054724.1:g.127649_127650insCCAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.8585-96_8585-95insGTGG (ATM) ENSP00000388058.2:n.8585-96_8585-95insGTGG
ENST00000713593.1:c.*8056-96_*8056-95insGTGG (ATM) ENSP00000518889.1:n.*8056-96_*8056-95insGTGG
ENST00000278616.9:c.8585-96_8585-95insGTGG (ATM) ENSP00000278616.4:n.8585-96_8585-95insGTGG
ENST00000638786.2:n.1283-96_1283-95insGTGG (ATM)
ENST00000682286.1:n.3342-96_3342-95insGTGG (ATM)
ENST00000682302.1:n.3003-96_3003-95insGTGG (ATM)
ENST00000683174.1:n.10069-96_10069-95insGTGG (ATM)
ENST00000683524.1:n.3809-96_3809-95insGTGG (ATM)
ENST00000684152.1:n.4001-96_4001-95insGTGG (ATM)
ENST00000684180.1:n.1059-96_1059-95insGTGG (ATM)
ENST00000684447.1:n.5078-96_5078-95insGTGG (ATM)
ENST00000527805.6:c.*3649-96_*3649-95insGTGG (ATM) ENSP00000435747.2:n.*3649-96_*3649-95insGTGG
ENST00000675595.1:c.*3720-96_*3720-95insGTGG (ATM) ENSP00000502563.1:n.*3720-96_*3720-95insGTGG
ENST00000675843.1:c.8585-96_8585-95insGTGG (ATM) MANE Select ENSP00000501606.1:n.8585-96_8585-95insGTGG
ENST00000278616.8:c.8585-96_8585-95insGTGG (ATM) ENSP00000278616.4:n.8585-96_8585-95insGTGG
ENST00000452508.6:c.8585-96_8585-95insGTGG (ATM) ENSP00000388058.2:n.8585-96_8585-95insGTGG
ENST00000524755.5:c.227-11892_227-11891insCCAC (C11orf65)
ENST00000524792.5:n.4800-96_4800-95insGTGG (ATM)
ENST00000525178.5:n.73-96_73-95insGTGG (ATM)
ENST00000525729.5:c.641-38113_641-38112insCCAC (C11orf65) ENSP00000433395.1:n.641-38113_641-38112insCCAC
ENST00000526725.1:n.272-6820_272-6819insCCAC (C11orf65)
ENST00000527531.5:c.*1196+7731_*1196+7732insCCAC (C11orf65) ENSP00000431706.1:n.*1196+7731_*1196+7732insCCAC
ENST00000615746.4:c.*1196+7731_*1196+7732insCCAC (C11orf65) ENSP00000483537.1:n.*1196+7731_*1196+7732insCCAC
NM_000051.3:c.8585-96_8585-95insGTGG , LRG_135t1:c.8585-96_8585-95insGTGG (ATM) NP_000042.3:n.8585-96_8585-95insGTGG
XM_005271414.3:c.788-11892_788-11891insCCAC (C11orf65) XP_005271471.1:n.788-11892_788-11891insCCAC
XM_005271415.3:c.732-11892_732-11891insCCAC (C11orf65) XP_005271472.1:n.732-11892_732-11891insCCAC
XM_005271561.3:c.8585-96_8585-95insGTGG (ATM) XP_005271618.2:n.8585-96_8585-95insGTGG
XM_005271562.3:c.8585-96_8585-95insGTGG (ATM) XP_005271619.2:n.8585-96_8585-95insGTGG
XM_006718843.2:c.8585-96_8585-95insGTGG (ATM) XP_006718906.1:n.8585-96_8585-95insGTGG
XM_006718845.1:c.4541-96_4541-95insGTGG (ATM) XP_006718908.1:n.4541-96_4541-95insGTGG
XM_011542640.1:c.788-6820_788-6819insCCAC (C11orf65) XP_011540942.1:n.788-6820_788-6819insCCAC
XM_011542643.1:c.732-6820_732-6819insCCAC (C11orf65) XP_011540945.1:n.732-6820_732-6819insCCAC
XM_011542840.1:c.8585-96_8585-95insGTGG (ATM) XP_011541142.1:n.8585-96_8585-95insGTGG
XM_011542841.1:c.8585-96_8585-95insGTGG (ATM) XP_011541143.1:n.8585-96_8585-95insGTGG
XM_011542842.1:c.8420-96_8420-95insGTGG (ATM) XP_011541144.1:n.8420-96_8420-95insGTGG
XM_011542843.1:c.8585-96_8585-95insGTGG (ATM) XP_011541145.1:n.8585-96_8585-95insGTGG
XM_011542844.1:c.7541-96_7541-95insGTGG (ATM) XP_011541146.1:n.7541-96_7541-95insGTGG
XM_011542845.1:c.7277-96_7277-95insGTGG (ATM) XP_011541147.1:n.7277-96_7277-95insGTGG
XM_011542847.1:c.3656-96_3656-95insGTGG (ATM) XP_011541149.1:n.3656-96_3656-95insGTGG
NM_001330368.1:c.641-38113_641-38112insCCAC (C11orf65) NP_001317297.1:n.641-38113_641-38112insCCAC
NM_001351110.1:c.695-11892_695-11891insCCAC (C11orf65) NP_001338039.1:n.695-11892_695-11891insCCAC
NM_001351834.1:c.8585-96_8585-95insGTGG (ATM) NP_001338763.1:n.8585-96_8585-95insGTGG
NR_147053.2:n.2301+7731_2301+7732insCCAC (C11orf65)
XM_005271414.4:c.788-11892_788-11891insCCAC (C11orf65) XP_005271471.1:n.788-11892_788-11891insCCAC
XM_005271415.4:c.732-11892_732-11891insCCAC (C11orf65) XP_005271472.1:n.732-11892_732-11891insCCAC
XM_005271562.5:c.8585-96_8585-95insGTGG (ATM) XP_005271619.2:n.8585-96_8585-95insGTGG
XM_006718843.4:c.8585-96_8585-95insGTGG (ATM) XP_006718906.1:n.8585-96_8585-95insGTGG
XM_006718845.2:c.4541-96_4541-95insGTGG (ATM) XP_006718908.1:n.4541-96_4541-95insGTGG
XM_011542640.2:c.788-6820_788-6819insCCAC (C11orf65) XP_011540942.1:n.788-6820_788-6819insCCAC
XM_011542643.2:c.732-6820_732-6819insCCAC (C11orf65) XP_011540945.1:n.732-6820_732-6819insCCAC
XM_011542840.3:c.8585-96_8585-95insGTGG (ATM) XP_011541142.1:n.8585-96_8585-95insGTGG
XM_011542842.3:c.8420-96_8420-95insGTGG (ATM) XP_011541144.1:n.8420-96_8420-95insGTGG
XM_011542843.2:c.8585-96_8585-95insGTGG (ATM) XP_011541145.1:n.8585-96_8585-95insGTGG
XM_011542844.3:c.7541-96_7541-95insGTGG (ATM) XP_011541146.1:n.7541-96_7541-95insGTGG
XM_011542845.2:c.7277-96_7277-95insGTGG (ATM) XP_011541147.1:n.7277-96_7277-95insGTGG
XM_017017247.1:c.904-6820_904-6819insCCAC (C11orf65) XP_016872736.1:n.904-6820_904-6819insCCAC
XM_017017789.2:c.8585-96_8585-95insGTGG (ATM) XP_016873278.1:n.8585-96_8585-95insGTGG
XM_017017790.2:c.8585-96_8585-95insGTGG (ATM) XP_016873279.1:n.8585-96_8585-95insGTGG
NM_001330368.2:c.641-38113_641-38112insCCAC (C11orf65) NP_001317297.1:n.641-38113_641-38112insCCAC
NM_001351110.2:c.695-11892_695-11891insCCAC (C11orf65) NP_001338039.1:n.695-11892_695-11891insCCAC
NM_001351834.2:c.8585-96_8585-95insGTGG (ATM) NP_001338763.1:n.8585-96_8585-95insGTGG
NM_000051.4:c.8585-96_8585-95insGTGG (ATM) MANE Select NP_000042.3:n.8585-96_8585-95insGTGG
NR_147053.3:n.2299+7731_2299+7732insCCAC (C11orf65)
Search 100 bp 5'
Search 100 bp 3'